Submissions for variant NM_001195553.2(DCX):c.557G>A (p.Arg186His)

dbSNP: rs587783563

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145859	SCV000192996	pathogenic	Ectopic tissue	2013-02-08	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000680148	SCV000807595	uncertain significance	Lissencephaly type 1 due to doublecortin gene mutation	2017-09-01	criteria provided, single submitter	clinical testing	This variant has been previously reported in single individual with no family, population, or functional studies. It was identified once in our laboratory de novo in a 12-year-old female with Lennox-Gastaut epilepsy, static encephalopathy, band heterotopia/double cortex on brain imaging, global delays, scoliosis.
GeneDx	RCV003128580	SCV003805477	pathogenic	not provided	2023-02-14	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25326635, 17111359, 31481326, 23365099)
Diagnostic Laboratory, Strasbourg University Hospital	RCV002274944	SCV002562785	uncertain significance	Seizure		no assertion criteria provided	clinical testing